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Universidad de la Costa, CUC. Calle 58 # 55 - 66. Barranquilla, Colombia. 336 22 00. repositorioredicuc@cuc.edu.co. Corporación Universidad de la Costa.

Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America

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Intrafamilial variable phenotype including corticobasal syndrome (178.2Kb)
Date
2017-02-02
Author
Gatto, Emilia Mabel
Allegri, Ricardo Francisco
Da Prat, Gustavo A.
Chrem Méndez, Patricio
Hanna, David S.
Dorschner, Michael O.
Surace, Ezequiel I.
Zabetian, Cyrus P.
Fernandez Mata, Ignácio
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URI: http://hdl.handle.net/11323/1826
Citar con DOI: doi: 10.1016/j.neurobiolaging.2017.02.002.

Abstract

Frontotemporal lobar degeneration is a neuropathological disorder that causes a variety of clinical syndromes including frontotemporal dementia (FTD), progressive supranuclear palsy, and corticobasal syndrome (CBS). FTD associated with parkinsonism occurs frequently as a result of mutations in the C9orf72 gene and also in the genes coding for the protein associated with microtubule tau (MAPT) and progranulin (GRN) on chromosome 17 (FTDP-17). Herein, we report an Argentinean family, of Basque ancestry, with an extensive family history of behavioral variant of FTD. Twenty-one members over 6 generations composed the pedigree. An extensive neurologic and neurocognitive examination was performed on 2 symptomatic individuals and 3 nonsymptomatic individuals. Two different phenotypes were identified among affected members, CBS in the proband and FTD in his brother. DNA was extracted from blood for these 5 individuals and whole-exome sequencing was performed on 3 of them followed by Sanger sequencing of candidate genes on the other 2. In both affected individuals, a missense mutation (p.P301L; rs63751273) in exon 10 of the MAPT gene (chr17q21.3) was identified. Among MAPT mutations, p.P301L is the most frequently associated to different phenotypes: (1) aggressive, symmetrical, and early-onset Parkinsonism; (2) late parkinsonism associated with FTD; and (3) progressive supranuclear palsy but only exceptionally it is reported associated to CBS. This is the first report of the occurrence of the p.P301L-MAPT mutation in South America and supports the marked phenotypic heterogeneity among members of the same family as previously reported.
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Universidad de la Costa, CUC

  • Calle 58 # 55 - 66. Barranquilla, Colombia

  • 336 22 00

  • repositorioredicuc@cuc.edu.co

Corporación Universidad de la Costa CUC, Personería Jurídica con Resolución No. 352 del 23 de abril de 1971 y reconocida como Universidad mediante resolución 3235 del 28 de marzo de 2012 expedida por el MEN. Institución de Educación Superior sujeta a inspección y vigilancia por el Ministerio de Educación Nacional.

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